Incidental Mutation 'R6650:Nlrp4c'
| ID |
527741 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrp4c
|
| Ensembl Gene |
ENSMUSG00000034690 |
| Gene Name |
NLR family, pyrin domain containing 4C |
| Synonyms |
Nalp4c, Nalp-alpha, Rnh2 |
| MMRRC Submission |
044771-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R6650 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
6048160-6108148 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 6068948 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 283
(F283Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037728]
[ENSMUST00000121583]
[ENSMUST00000208360]
|
| AlphaFold |
Q3TKR3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037728
AA Change: F283Y
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000046503
Gene: ENSMUSG00000034690
AA Change: F283Y
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
6 |
89 |
1.41e-34 |
SMART |
|
Pfam:NACHT
|
148 |
317 |
4.5e-40 |
PFAM |
|
LRR
|
689 |
716 |
2.91e0 |
SMART |
|
LRR
|
718 |
745 |
1.49e1 |
SMART |
|
LRR
|
746 |
772 |
2.5e1 |
SMART |
|
LRR
|
774 |
801 |
6.24e1 |
SMART |
|
LRR
|
802 |
829 |
3.07e-1 |
SMART |
|
LRR
|
831 |
858 |
4.11e-1 |
SMART |
|
LRR
|
859 |
886 |
3.31e-6 |
SMART |
|
LRR
|
888 |
915 |
6.16e0 |
SMART |
|
LRR
|
916 |
943 |
9.24e1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121583
AA Change: F283Y
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113824
Gene: ENSMUSG00000034690
AA Change: F283Y
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
6 |
89 |
1.41e-34 |
SMART |
|
Pfam:NACHT
|
148 |
317 |
1.7e-39 |
PFAM |
|
LRR
|
689 |
716 |
2.91e0 |
SMART |
|
LRR
|
718 |
745 |
1.49e1 |
SMART |
|
LRR
|
746 |
772 |
2.5e1 |
SMART |
|
LRR
|
774 |
801 |
6.24e1 |
SMART |
|
LRR
|
802 |
829 |
3.07e-1 |
SMART |
|
LRR
|
831 |
858 |
4.11e-1 |
SMART |
|
LRR
|
859 |
886 |
3.31e-6 |
SMART |
|
LRR
|
888 |
915 |
6.16e0 |
SMART |
|
LRR
|
916 |
943 |
9.24e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207267
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208360
AA Change: F283Y
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl3 |
A |
G |
1: 78,659,639 (GRCm39) |
N97S |
probably benign |
Het |
| Aph1a |
T |
C |
3: 95,803,598 (GRCm39) |
V220A |
probably benign |
Het |
| Bin2 |
T |
A |
15: 100,567,301 (GRCm39) |
Q25L |
probably damaging |
Het |
| Ccdc102a |
T |
C |
8: 95,639,892 (GRCm39) |
E134G |
probably benign |
Het |
| Cdh6 |
A |
G |
15: 13,051,487 (GRCm39) |
V382A |
probably benign |
Het |
| Cep135 |
T |
A |
5: 76,781,548 (GRCm39) |
V845E |
possibly damaging |
Het |
| Cngb3 |
T |
C |
4: 19,364,168 (GRCm39) |
L124P |
probably damaging |
Het |
| Cped1 |
A |
G |
6: 22,233,975 (GRCm39) |
N725S |
probably damaging |
Het |
| Dcn |
C |
A |
10: 97,343,605 (GRCm39) |
N188K |
probably benign |
Het |
| Dnah7c |
C |
A |
1: 46,688,500 (GRCm39) |
T1890K |
probably benign |
Het |
| Dnah7c |
A |
G |
1: 46,688,511 (GRCm39) |
S1894G |
probably benign |
Het |
| Eef2 |
CCC |
CCCC |
10: 81,014,602 (GRCm39) |
|
probably null |
Het |
| Ercc3 |
C |
T |
18: 32,394,389 (GRCm39) |
R590C |
probably damaging |
Het |
| Fchsd1 |
A |
T |
18: 38,099,555 (GRCm39) |
L213* |
probably null |
Het |
| Fmod |
A |
G |
1: 133,968,745 (GRCm39) |
S262G |
probably benign |
Het |
| Gm45861 |
T |
C |
8: 27,995,043 (GRCm39) |
S530P |
unknown |
Het |
| Ifih1 |
T |
C |
2: 62,436,791 (GRCm39) |
D544G |
possibly damaging |
Het |
| Itpr1 |
A |
G |
6: 108,371,034 (GRCm39) |
|
probably null |
Het |
| Larp1 |
CA |
CAA |
11: 57,949,422 (GRCm39) |
|
probably null |
Het |
| Lbp |
T |
A |
2: 158,151,587 (GRCm39) |
S102R |
probably benign |
Het |
| Lepr |
C |
A |
4: 101,672,398 (GRCm39) |
Q1141K |
probably damaging |
Het |
| Mcm8 |
C |
A |
2: 132,663,327 (GRCm39) |
N148K |
probably benign |
Het |
| Mcpt4 |
T |
G |
14: 56,298,090 (GRCm39) |
T154P |
possibly damaging |
Het |
| Mrpl22 |
A |
G |
11: 58,066,134 (GRCm39) |
Y76C |
probably damaging |
Het |
| Msln |
T |
C |
17: 25,969,144 (GRCm39) |
I414V |
probably benign |
Het |
| Ncor1 |
G |
A |
11: 62,225,367 (GRCm39) |
T1798I |
probably damaging |
Het |
| Os9 |
C |
T |
10: 126,935,953 (GRCm39) |
|
probably null |
Het |
| Pira12 |
T |
A |
7: 3,898,632 (GRCm39) |
Q272L |
probably benign |
Het |
| Pira13 |
T |
A |
7: 3,819,898 (GRCm39) |
H555L |
possibly damaging |
Het |
| Pja2 |
T |
C |
17: 64,599,936 (GRCm39) |
E516G |
probably damaging |
Het |
| Pofut1 |
T |
A |
2: 153,101,270 (GRCm39) |
|
probably benign |
Het |
| Prl2b1 |
G |
T |
13: 27,569,249 (GRCm39) |
H116Q |
probably benign |
Het |
| Ralgapa2 |
T |
C |
2: 146,230,422 (GRCm39) |
K1048E |
probably damaging |
Het |
| Scnn1b |
G |
A |
7: 121,502,043 (GRCm39) |
V234M |
probably damaging |
Het |
| Sfxn3 |
G |
A |
19: 45,038,354 (GRCm39) |
|
probably null |
Het |
| Sh3pxd2a |
C |
T |
19: 47,256,663 (GRCm39) |
G685D |
probably benign |
Het |
| Six4 |
C |
A |
12: 73,150,299 (GRCm39) |
G749C |
probably benign |
Het |
| Tnn |
G |
A |
1: 159,942,153 (GRCm39) |
T1115I |
probably damaging |
Het |
| Tpcn1 |
T |
A |
5: 120,675,627 (GRCm39) |
Q779L |
probably null |
Het |
| Ugt2a2 |
A |
G |
5: 87,622,459 (GRCm39) |
Y380H |
probably damaging |
Het |
| Xkr8 |
T |
C |
4: 132,455,249 (GRCm39) |
T375A |
probably benign |
Het |
| Zdhhc20 |
T |
A |
14: 58,096,032 (GRCm39) |
K135N |
probably damaging |
Het |
| Zfp235 |
T |
A |
7: 23,836,463 (GRCm39) |
|
probably null |
Het |
| Zfp354c |
A |
G |
11: 50,705,518 (GRCm39) |
V519A |
probably damaging |
Het |
|
| Other mutations in Nlrp4c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00727:Nlrp4c
|
APN |
7 |
6,069,701 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL01458:Nlrp4c
|
APN |
7 |
6,103,783 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01464:Nlrp4c
|
APN |
7 |
6,103,783 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01470:Nlrp4c
|
APN |
7 |
6,103,783 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01481:Nlrp4c
|
APN |
7 |
6,103,783 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01531:Nlrp4c
|
APN |
7 |
6,063,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01595:Nlrp4c
|
APN |
7 |
6,069,111 (GRCm39) |
nonsense |
probably null |
|
|
IGL02087:Nlrp4c
|
APN |
7 |
6,095,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02226:Nlrp4c
|
APN |
7 |
6,069,828 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02588:Nlrp4c
|
APN |
7 |
6,087,647 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02822:Nlrp4c
|
APN |
7 |
6,068,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02884:Nlrp4c
|
APN |
7 |
6,101,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02943:Nlrp4c
|
APN |
7 |
6,068,974 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03017:Nlrp4c
|
APN |
7 |
6,087,679 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0347:Nlrp4c
|
UTSW |
7 |
6,069,415 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0579:Nlrp4c
|
UTSW |
7 |
6,063,844 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1051:Nlrp4c
|
UTSW |
7 |
6,068,942 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1596:Nlrp4c
|
UTSW |
7 |
6,069,777 (GRCm39) |
missense |
probably benign |
|
|
R1636:Nlrp4c
|
UTSW |
7 |
6,069,737 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1739:Nlrp4c
|
UTSW |
7 |
6,076,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1766:Nlrp4c
|
UTSW |
7 |
6,076,113 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1824:Nlrp4c
|
UTSW |
7 |
6,069,955 (GRCm39) |
splice site |
probably null |
|
|
R1827:Nlrp4c
|
UTSW |
7 |
6,068,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1858:Nlrp4c
|
UTSW |
7 |
6,087,655 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1902:Nlrp4c
|
UTSW |
7 |
6,068,818 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2217:Nlrp4c
|
UTSW |
7 |
6,076,113 (GRCm39) |
missense |
probably benign |
|
|
R2415:Nlrp4c
|
UTSW |
7 |
6,069,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3004:Nlrp4c
|
UTSW |
7 |
6,068,524 (GRCm39) |
missense |
probably benign |
0.28 |
|
R3005:Nlrp4c
|
UTSW |
7 |
6,068,524 (GRCm39) |
missense |
probably benign |
0.28 |
|
R3410:Nlrp4c
|
UTSW |
7 |
6,095,569 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R3411:Nlrp4c
|
UTSW |
7 |
6,095,569 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R3710:Nlrp4c
|
UTSW |
7 |
6,068,627 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4072:Nlrp4c
|
UTSW |
7 |
6,075,709 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4073:Nlrp4c
|
UTSW |
7 |
6,075,709 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4075:Nlrp4c
|
UTSW |
7 |
6,075,709 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4076:Nlrp4c
|
UTSW |
7 |
6,075,709 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4542:Nlrp4c
|
UTSW |
7 |
6,103,826 (GRCm39) |
nonsense |
probably null |
|
|
R4709:Nlrp4c
|
UTSW |
7 |
6,068,424 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4776:Nlrp4c
|
UTSW |
7 |
6,069,125 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5043:Nlrp4c
|
UTSW |
7 |
6,069,824 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5258:Nlrp4c
|
UTSW |
7 |
6,069,622 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6164:Nlrp4c
|
UTSW |
7 |
6,095,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6383:Nlrp4c
|
UTSW |
7 |
6,069,052 (GRCm39) |
missense |
probably benign |
|
|
R6810:Nlrp4c
|
UTSW |
7 |
6,069,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7095:Nlrp4c
|
UTSW |
7 |
6,063,792 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7102:Nlrp4c
|
UTSW |
7 |
6,068,708 (GRCm39) |
nonsense |
probably null |
|
|
R7104:Nlrp4c
|
UTSW |
7 |
6,068,708 (GRCm39) |
nonsense |
probably null |
|
|
R7232:Nlrp4c
|
UTSW |
7 |
6,068,708 (GRCm39) |
nonsense |
probably null |
|
|
R7444:Nlrp4c
|
UTSW |
7 |
6,095,595 (GRCm39) |
nonsense |
probably null |
|
|
R7705:Nlrp4c
|
UTSW |
7 |
6,075,635 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7966:Nlrp4c
|
UTSW |
7 |
6,069,322 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8506:Nlrp4c
|
UTSW |
7 |
6,103,775 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8677:Nlrp4c
|
UTSW |
7 |
6,075,644 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8708:Nlrp4c
|
UTSW |
7 |
6,068,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8838:Nlrp4c
|
UTSW |
7 |
6,069,337 (GRCm39) |
missense |
|
|
|
R9031:Nlrp4c
|
UTSW |
7 |
6,107,608 (GRCm39) |
makesense |
probably null |
|
|
R9193:Nlrp4c
|
UTSW |
7 |
6,095,621 (GRCm39) |
missense |
probably benign |
|
|
R9329:Nlrp4c
|
UTSW |
7 |
6,068,498 (GRCm39) |
missense |
probably benign |
|
|
R9388:Nlrp4c
|
UTSW |
7 |
6,069,874 (GRCm39) |
nonsense |
probably null |
|
|
R9474:Nlrp4c
|
UTSW |
7 |
6,068,626 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9567:Nlrp4c
|
UTSW |
7 |
6,063,624 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9702:Nlrp4c
|
UTSW |
7 |
6,068,801 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0060:Nlrp4c
|
UTSW |
7 |
6,068,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Nlrp4c
|
UTSW |
7 |
6,069,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGATATCCTATCCCAACCGGAG -3'
(R):5'- TTAGACAAGTGGCCACCATCC -3'
Sequencing Primer
(F):5'- CCGGAGAAACTCTTATTTGTCATCG -3'
(R):5'- CATCCAGCAGAGCACAGGG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation